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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

Machine learning is effective in predicting gene functions and their relationships with diseases.

Some people have a genetic variation that makes them less effective at breaking down drugs.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.

A gene mutation causes monilethrix in a Chinese family.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.

Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.

Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.

DNAJB9 cfRNA could help diagnose and treat female hair loss.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.

Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.

Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.

The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.